Details of Disease

General Information of Disease (ID: DIS6FF0Z)

Disease Name Auriculocondylar syndrome 2
Synonyms ARCND2; AURICULOCONDYLAR syndrome 2; Auriculocondylar syndrome type 2; Auriculocondylar syndrome 2; PLCB4 auriculocondylar syndrome; auriculocondylar syndrome caused by mutation in PLCB4
Definition Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.
Disease Hierarchy
DISW3W1P: Auriculocondylar syndrome
DIS6FF0Z: Auriculocondylar syndrome 2
Disease Identifiers
MONDO ID
MONDO_0013845
UMLS CUI
C3553404
OMIM ID
614669
MedGen ID
766318

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLCB4 OTPA0QHW Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.